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Former Names B6C3Fe-a/a-Lmx1adr-J (Changed: 15-DEC-04 ) Type Mutant Strain; Additional information on Genetically Engineered and Mutant Mice. Visit our online Nomenclature tutorial. Species laboratory mouse H2 Haplotype k/b segregating Generation N10 F1 Appearance
black (may have white belly spot), circling, ataxic, short tail
Related Genotype: a/a Lmx1adr-J/Lmx1adr-J
black, unaffected
Related Genotype: a/a Lmx1adr-J/+ or a/a ?/+Description
Lmx1a encodes a LIM homeodomain (LIM-hd) protein that is expressed in the roof plate along the neuraxis during CNS development. The Lmx1adr-J mutation replaces a conserved cysteine in the LIM1 domain of the protein with a tyrosine (Millonig et al. 2000).Mice homozygous for Lmx1adr-Jare identifiable at birth by a thin filament extending from the end of the tail, which drops off within a few days, and a short or blunt tail. They may also have a head bleb. When fur develops, there may be a white belly spot. Lmx1adr-J/Lmx1adr-J mice are ataxic and hyperactive and have difficulty righting themselves, and they do not reproduce (Sweet and Wahlsten 1983). They also exhibit circling behavior, are deaf, and have inner ear and vertebral malformations (Manzanares et al. 2000).
Lmx1adr-J homozygotes exhibit defects of three classes of anatomic structures: the hindbrain roof plate, neural crest derived tissues, and the axial skeleton. Failure of roofplate development results in absence of dorsal interneurons of the spinal cord and of granule neurons of the cerebellar cortex and failure of the dorsal vertebral neural arches to form (Millonig et al. 2000). The cerebellum is smaller than normal, in some cases virtually absent, and exhibits disrupted foliation (Sweet and Wahlsten 1983; Sekiguchi et al. 1992). The cytoarchitectural organization of the neocortex, the hippocampus and the dentate gyrus is disrupted (Sekiguchi et al. 1992, 1993, 1994, 1996). Skeletal anomalies include abnormal neural crest derived cranial bones and improper fusion of cervical and thoracic vertebrae at the dorsal midline (Mananares et al. 2000). Deafness may be the consequence of "serious morphogenetic defects of the otic vesicle due to the dorsal neural tube abnormalities," perhaps augmented by "abnormal sensory and motor projections" in the region of rhombomeres 4-6 (Manzanares et al. 2000). Although they have no external or behavioral phenotype, 50% of heterozygotes exhibit histological pathology of the hippocampus qualitatively similar, but less extensive, than that of homozygotes (Patrylo et al. 1990).
Development
The Lmx1adr-J mutation, originally called sstJ and later known as drsst-J and as drJ, arose in the C3FeB6-A/Aw-J-ank colony in the Mouse Mutant Stocks Center at The Jackson Laboratory (Sweet and Wahlsten 1983). Since its discovery, it has been maintained by crossing ovary transplant recipients to B6C3Fe-a/a males; the black coat color of the present background makes it easy to distinguish pups derived from the transplanted ovary from any that might result from residual host ovarian tissue. Identification of the alleles for markers flanking Lmx1a in Lmx1adr-J/Lmx1adr-J progeny of B6C3Fe a/a-Lmx1adr-J/J pairs demonstrated that the mutation occurred on the C3H chromosome (Millonig et al. 2000).
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| Untyped from the colony | ||
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Strains carrying a allele
View Strains carrying a (104 strains)
Strains carrying other alleles of Lmx1a
004202 B6.C3 Pde6brd1 Hps4le/+ +-Lmx1adr-8J/J 002624 B6.C3-Lmx1adr-6J/J View Strains carrying other alleles of Lmx1a (2 strains)
Strains carrying other alleles of a
View Strains carrying other alleles of a (81 strains)
View Mammalian Phenotype Terms
Mammalian Phenotype Terms
assigned by genotype
Lmx1adr-J/Lmx1a+
B6.Cg-Lmx1adr-J
- pigmentation phenotype
- belly spot (MGI Ref ID J:63181)
- in C57BL/6 background, a white patch of variable size in the coat on the belly
- in C57BL/6 background, white spotting trait became fully penetrant
- skin/coat/nails phenotype
- belly spot (MGI Ref ID J:63181)
- in C57BL/6 background, a white patch of variable size in the coat on the belly
- in C57BL/6 background, white spotting trait became fully penetrant
Lmx1adr-J/Lmx1adr-J
B6.Cg-Lmx1adr-J
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:63181)
- shorter life span than wild-type in original mixed background
- in C57BL/6 background, no live homozygotes are generated
Lmx1adr-J/Lmx1adr-J
involves: C3H * C57BL/6
- behavior/neurological phenotype
- circling (MGI Ref ID J:63181)
- head tossing (MGI Ref ID J:63181)
- hearing/vestibular/ear phenotype
- circling (MGI Ref ID J:63181)
- deafness (MGI Ref ID J:63181)
- head tossing (MGI Ref ID J:63181)
- pigmentation phenotype
- belly spot (MGI Ref ID J:63181)
- a complete white belt around trunk with some variability
- skin/coat/nails phenotype
- belly spot (MGI Ref ID J:63181)
- a complete white belt around trunk with some variability
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:63181)
- shorter life span than wild-type in original mixed background
- initial breeding experiments in mixed background generated many live born homozygous pups
- nervous system phenotype
- abnormal cerebellum morphology (MGI Ref ID J:1460)
- abnormal cerebellum development (MGI Ref ID J:1460)
- the cerebellum is almost completely absent
- abnormal cerebellar foliation (MGI Ref ID J:1460)
- disruptions in foliation are found
- there are mixtures of normal and abnormal laminated structure
- islands of both granule and Purkinje cells or just granule cells are observed
- abnormal glossopharyngeal ganglion morphology (MGI Ref ID J:63181)
- much reduced glossopharyngeal ganglion
- abnormal glossopharyngeal nerve morphology (MGI Ref ID J:63181)
- an accessory branch originating in the glossopharyngeal/vagus region projects abnormally
- abnormal hippocampus CA3 region morphology (MGI Ref ID J:1460)
- pyramidal layer forms widely dispersed arrangements in this area
- there is aberrant cholinergic activity
- abnormal hippocampus development (MGI Ref ID J:1460)
- abnormal hippocampus pyramidal cell layer (MGI Ref ID J:1460)
- forms widely dispersed arrangements in CA3 region
- there are ectopically located pyramidal cells in the stratum radiatum and stratum oriens
- abnormal acetylcholinesterase activity is found in the ectopic pyramidal cells
- abnormal rhombomere morphology (MGI Ref ID J:63181)
- significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos
- however, hindbrain segmentation is not affected
- abnormal roof plate morphology (MGI Ref ID J:63181)
- defective roof plate formation in the hindbrain
- spina bifida (MGI Ref ID J:63181)
- in vertebrae T9-T13
- craniofacial phenotype
- abnormal interparietal bone morphology (MGI Ref ID J:63181)
- the shape and ossification is severely disrupted
- abnormal parietal bone morphology (MGI Ref ID J:63181)
- the shape of the parietal bone is affected
- highly disorganized lamboid suture
- skeleton phenotype
- abnormal interparietal bone morphology (MGI Ref ID J:63181)
- the shape and ossification is severely disrupted
- abnormal parietal bone morphology (MGI Ref ID J:63181)
- the shape of the parietal bone is affected
- highly disorganized lamboid suture
- abnormal vertebral arch development (MGI Ref ID J:63181)
- neural arches in C1 fail to form along the dorsal midline
- delay in fusion of the arches in C2 and C3
- failure in dorsal fusion of vertebrae T9-T13 causing grossly altered neural arches
- synostosis (MGI Ref ID J:63181)
- occasional synostosis of the cranial vault along the interface of the interparietal and supraoccipital bone
- responsible for the blebbing on the head seen in live animals
- cellular phenotype
- abnormal cell physiology (MGI Ref ID J:14476)
- an abnormal distribution of acetylcholinesterase is found in the hippocampus
- abnormal cell migration (MGI Ref ID J:1460)
- abnormal neuronal migration contributes to abnormal cerebellum development
- abnormal cell proliferation (MGI Ref ID J:1460)
- disruption of cell proliferation contributes to abnormal cerebellum development
- embryogenesis phenotype
- abnormal rhombomere morphology (MGI Ref ID J:63181)
- significant changes in the shape of rhombomeres 3, 4, and 5 are observed in homozygote embryos
- however, hindbrain segmentation is not affected
- abnormal roof plate morphology (MGI Ref ID J:63181)
- defective roof plate formation in the hindbrain
- spina bifida (MGI Ref ID J:63181)
- in vertebrae T9-T13
Lmx1adr-J/Lmx1adr-J
C3FeB6 A/Aw-J-Ankank Lmx1adr-J
- limbs/digits/tail phenotype
- short tail (MGI Ref ID J:13949)
- a tiny filament at the tip of the tail seen at birth disappears by 2 days after birth leaving either a short tail or distinctly blunted tail
- nervous system phenotype
- abnormal cerebellar foliation (MGI Ref ID J:13949)
- small cerebellum (MGI Ref ID J:13949)
- behavior/neurological phenotype
- altered righting response (MGI Ref ID J:13949)
- a delayed development of the righting reflex
- hyperactivity (MGI Ref ID J:13949)
- pigmentation phenotype
- belly spot (MGI Ref ID J:13949)
- white belly spot and feet
- skin/coat/nails phenotype
- belly spot (MGI Ref ID J:13949)
- white belly spot and feet
- lethality-postnatal
- postnatal lethality (MGI Ref ID J:13949)
- preweaning mortality is high
- reproductive system phenotype
- infertility (MGI Ref ID J:13949)
Lmx1adr-J/Lmx1adr-J
involves: C3HeB/Fe * C57BL/6
- nervous system phenotype
- abnormal cerebellum development (MGI Ref ID J:152673)
- at E12.5, reduced proliferation is observed in the cerebellar anlage
View Research Applications
Research Applications
This mouse can be used to support research in many areas including:Lmx1adr-J related
Developmental Biology Research
Craniofacial and Palate Defects
Neural Tube Defects
Neurobiology Research
Cerebellar Defects
Neural Tube Defects
Vestibular and Hearing Defects
Sensorineural Research
Vestibular and Hearing Defects
| Allele Symbol | Lmx1adr-J | ||
|---|---|---|---|
| Allele Name | dreher Jackson | ||
| Allele Type | Spontaneous | ||
| Common Name(s) | sstJ; | ||
| Strain of Origin | C3FeB6 A/Aw-J-Ankank/J | ||
| Gene Symbol and Name | Lmx1a, LIM homeobox transcription factor 1 alpha | ||
| Chromosome | 1 | ||
| Gene Common Name(s) | LMX-1; LMX1; LMX1.1; MGC87616; dr; dreher; shaker short-tail; sst; | ||
| Molecular Note | A G-to-A transition mutation results in a conserved cysteine to a tyrosine amino acid change in the LIM1 domain of the encoded protein. The conserved cysteine is thought to be required for coordination of zinc that is essential for the function of the LIM domain, and thus the transcriptional activity of the protein. [MGI Ref ID J:60593] | ||
| Allele Symbol | a | ||
| Allele Name | nonagouti | ||
| Allele Type | Spontaneous | ||
This strain will not have a genotyping protocol or one is not currently available.
Helpful Links
Genotyping resources and troubleshooting
Manzanares M; Trainor PA; Ariza-McNaughton L; Nonchev S; Krumlauf R. 2000. Dorsal patterning defects in the hindbrain, roof plate and skeleton in the dreher (dr(J)) mouse mutant Mech Dev 94(1-2):147-56. [PubMed: 10842066] [MGI Ref ID J:63181]
Millen KJ; Millonig JH; Hatten ME. 2004. Roof plate and dorsal spinal cord dl1 interneuron development in the dreher mutant mouse. Dev Biol 270(2):382-92. [PubMed: 15183721] [MGI Ref ID J:92188]
Sekiguchi M; Abe H; Nagato Y; Tanaka O; Guo H; Nowakowski RS. 1996. The abnormal distribution of mossy fiber bundles and morphological abnormalities in hippocampal formation of dreher(J) (dr(J)/dr(J))mouse. Brain Res Dev Brain Res 92(1):31-8. [PubMed: 8861720] [MGI Ref ID J:32558]
Sekiguchi M; Abe H; Shimai K; Huang G; Inoue T; Nowakowski RS. 1994. Disruption of neuronal migration in the neocortex of the dreher mutant mouse. Brain Res Dev Brain Res 77(1):37-43. [PubMed: 8131261] [MGI Ref ID J:17085]
Sekiguchi M; Nowakowski RS; Shimai K; Huang G; Inoue T; Abe H. 1993. Abnormal distribution of acetylcholinesterase activity in the hippocampal formation of the dreher mutant mouse. Brain Res 622(1-2):203-10. [PubMed: 8242357] [MGI Ref ID J:14476]
Sekiguchi M; Shimai K; Guo H; Nowakowski RS. 1992. Cytoarchitectonic abnormalities in hippocampal formation and cerebellum of dreher mutant mouse. Brain Res Dev Brain Res 67(1):105-12. [PubMed: 1638738] [MGI Ref ID J:1460]
Lmx1adr-J relatedBergstrom DE; Gagnon LH; Eicher EM. 1999. Genetic and physical mapping of the Dreher locus on mouse Chromosome 1 Genomics 59:291-9. [PubMed: 10444330] [MGI Ref ID J:54765]
Chizhikov V; Steshina E; Roberts R; Ilkin Y; Washburn L; Millen KJ. 2006. Molecular definition of an allelic series of mutations disrupting the mouse Lmx1a (dreher) gene. Mamm Genome 17(10):1025-32. [PubMed: 17019651] [MGI Ref ID J:115043]
Chizhikov VV; Lindgren AG; Currle DS; Rose MF; Monuki ES; Millen KJ. 2006. The roof plate regulates cerebellar cell-type specification and proliferation. Development 133(15):2793-804. [PubMed: 16790481] [MGI Ref ID J:119033]
Chizhikov VV; Millen KJ. 2004. Control of roof plate formation by Lmx1a in the developing spinal cord. Development 131(11):2693-705. [PubMed: 15148302] [MGI Ref ID J:91822]
Costa C; Harding B; Copp AJ. 2001. Neuronal migration defects in the Dreher (Lmx1a) mutant mouse: role of disorders of the glial limiting membrane. Cereb Cortex 11(6):498-505. [PubMed: 11375911] [MGI Ref ID J:102081]
Koo SK; Hill JK; Hwang CH; Lin ZS; Millen KJ; Wu DK. 2009. Lmx1a maintains proper neurogenic, sensory, and non-sensory domains in the mammalian inner ear. Dev Biol 333(1):14-25. [PubMed: 19540218] [MGI Ref ID J:152264]
Manzanares M; Trainor PA; Ariza-McNaughton L; Nonchev S; Krumlauf R. 2000. Dorsal patterning defects in the hindbrain, roof plate and skeleton in the dreher (dr(J)) mouse mutant Mech Dev 94(1-2):147-56. [PubMed: 10842066] [MGI Ref ID J:63181]
Millen KJ; Millonig JH; Hatten ME. 2004. Roof plate and dorsal spinal cord dl1 interneuron development in the dreher mutant mouse. Dev Biol 270(2):382-92. [PubMed: 15183721] [MGI Ref ID J:92188]
Millonig JH; Millen KJ; Hatten ME. 2000. The mouse Dreher gene Lmx1a controls formation of the roof plate in the vertebrate CNS [see comments] Nature 403(6771):764-9. [PubMed: 10693804] [MGI Ref ID J:60593]
Mishima Y; Lindgren AG; Chizhikov VV; Johnson RL; Millen KJ. 2009. Overlapping function of Lmx1a and Lmx1b in anterior hindbrain roof plate formation and cerebellar growth. J Neurosci 29(36):11377-84. [PubMed: 19741143] [MGI Ref ID J:152673]
Ono Y; Nakatani T; Sakamoto Y; Mizuhara E; Minaki Y; Kumai M; Hamaguchi A; Nishimura M; Inoue Y; Hayashi H; Takahashi J; Imai T. 2007. Differences in neurogenic potential in floor plate cells along an anteroposterior location: midbrain dopaminergic neurons originate from mesencephalic floor plate cells. Development 134(17):3213-25. [PubMed: 17670789] [MGI Ref ID J:124270]
Patrylo PR; Nowakowski RS. 1994. Morphology and distribution of astrocytes in the molecular layer of the dentate gyrus in NZB/BlNJ, Dreher, and C57BL/6J mice. Glia 10(1):1-9. [PubMed: 8300188] [MGI Ref ID J:28531]
Sekiguchi M; Abe H; Nagato Y; Tanaka O; Guo H; Nowakowski RS. 1996. The abnormal distribution of mossy fiber bundles and morphological abnormalities in hippocampal formation of dreher(J) (dr(J)/dr(J))mouse. Brain Res Dev Brain Res 92(1):31-8. [PubMed: 8861720] [MGI Ref ID J:32558]
Sekiguchi M; Abe H; Shimai K; Huang G; Inoue T; Nowakowski RS. 1994. Disruption of neuronal migration in the neocortex of the dreher mutant mouse. Brain Res Dev Brain Res 77(1):37-43. [PubMed: 8131261] [MGI Ref ID J:17085]
Sekiguchi M; Nowakowski RS; Shimai K; Huang G; Inoue T; Abe H. 1993. Abnormal distribution of acetylcholinesterase activity in the hippocampal formation of the dreher mutant mouse. Brain Res 622(1-2):203-10. [PubMed: 8242357] [MGI Ref ID J:14476]
Sekiguchi M; Shimai K; Guo H; Nowakowski RS. 1992. Cytoarchitectonic abnormalities in hippocampal formation and cerebellum of dreher mutant mouse. Brain Res Dev Brain Res 67(1):105-12. [PubMed: 1638738] [MGI Ref ID J:1460]
Sweet HO; Wahlsten D. 1983. Shaker short-tail (sst). Mouse News Lett 69:26. [MGI Ref ID J:13949]
Currently there no information available for this strain. This may be due to the supply level of this strain.
| Pricing for USA, Canada and Mexico shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $1900.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Pricing for International shipping destinations |
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Animals Provided
Price (US dollars $) Cryorecovery Fee $2470.00 At least two mice that carry the mutation (if it is a mutant strain) will be provided. Their genotypes may not reflect those discussed in the strain description. Please inquire for possible genotypes and see additional details below.
| Standard Supply | Cryopreserved. Ready for recovery. Please refer to pricing and supply notes for further information. |
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| Supply Notes |
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| Untyped from the colony | ||
| Considerations for Choosing Controls | ||
| USA, Canada and Mexico - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
| International - Control Pricing Information for Genetically Engineered Mutant Strains. | ||
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